Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667479_31667480del , CM000683.2:g.31667479_31667480del | GRCh38 |
| NC_000021.8:g.33039792_33039793del , CM000683.1:g.33039792_33039793del | GRCh37 |
| NC_000021.7:g.31961663_31961664del | NCBI36 |
| NG_008689.1:g.12858_12859del , LRG_652:g.12858_12859del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.357+104_357+105del MANE Select | ENSP00000270142.7:n.357+104_357+105del | |
| ENST00000270142.10:c.357+104_357+105del | ENSP00000270142.6:n.357+104_357+105del | |
| ENST00000389995.4:c.300+104_300+105del | ENSP00000374645.4:n.300+104_300+105del | |
| ENST00000470944.1:n.1285+104_1285+105del | ||
| NM_000454.4:c.357+104_357+105del , LRG_652t1:c.357+104_357+105del | NP_000445.1:n.357+104_357+105del | |
| NM_000454.5:c.357+104_357+105del MANE Select | NP_000445.1:n.357+104_357+105del |